Inactivation of the tumor suppressor WTX in a subset of pediatric tumors

Genes Chromosomes and Cancer

Volumn 53, Issue 1, 2014, Pages 67-77

  Akhavanfard, Sara ^a,b   Vargas, Sara O ^b,c   Han, Moonjoo ^a   Nitta, Mai ^a   Chang, Clarice B ^a   Le, Long P ^a,b   Fazlollahi, Ladan ^a,b   Nguyen, Quan ^d   Ma, Yunqing ^d   Cosper, Arjola ^a   Dias Santagata, Dora ^a,b   Han, Jae Y ^a   Bergethon, Kristin ^a   Borger, Darrell R ^a,b   Ellisen, Leif W ^a,b   Pomeroy, Scott L ^b,c   Haber, Daniel A ^a,b   Iafrate, A John ^a,b   Rivera, Miguel N ^a,b,e  

^a MASSACHUSETTS GENERAL HOSPITAL   (United States)

^b HARVARD MEDICAL SCHOOL   (United States)

^c BOSTON CHILDREN S HOSPITAL   (United States)

^d Thermo Fisher Scientific   (United States)

^e BROAD INSTITUTE OF MIT AND HARVARD   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

MESSENGER RNA;

ARTICLE; CHILDHOOD CANCER; COMPARATIVE GENOMIC HYBRIDIZATION; EMBRYONAL RHABDOMYOSARCOMA; EXON; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE DELETION; GENE EXPRESSION; GENE INACTIVATION; HEPATOBLASTOMA; HUMAN; HUMAN CELL; HUMAN TISSUE; IMMUNOHISTOCHEMISTRY; MAJOR CLINICAL STUDY; MALE; OPEN READING FRAME; PRIORITY JOURNAL; SEQUENCE ALIGNMENT; SEQUENCE ANALYSIS; SOMATIC MUTATION; TUMOR SUPPRESSOR GENE; WTX GENE;

ADAPTOR PROTEINS, SIGNAL TRANSDUCING; ADULT; CHILD, PRESCHOOL; FEMALE; GENE EXPRESSION REGULATION; HEPATOBLASTOMA; HUMANS; LIVER NEOPLASMS; MALE; RHABDOMYOSARCOMA, EMBRYONAL; SEQUENCE DELETION; TUMOR SUPPRESSOR PROTEINS; WILMS TUMOR;

EID: 84887619027     PISSN: 10452257     EISSN: 10982264     Source Type: Journal    
DOI: 10.1002/gcc.22118     Document Type: Article

References (37)

1. Cairo S, Armengol C, de Reynies A, Wei Y, Thomas E, Renard CA, Goga A, Balakrishnan A, Semeraro M, Gresh L, Pontoglio M, Strick-Marchand H, Levillayer F, Nouet Y, Rickman D, Gauthier F, Branchereau S, Brugieres L, Laithier V, Bouvier R, Boman F, Basso G, Michiels JF, Hofman P, Arbez-Gindre F, Jouan H, Rousselet-Chapeau MC, Berrebi D, Marcellin L, Plenat F, Zachar D, Joubert M, Selves J, Pasquier D, Bioulac-Sage P, Grotzer M, Childs M, Fabre M, Buendia MA. 2008. Hepatic stem-like phenotype and interplay of Wnt/beta-catenin and Myc signaling in aggressive childhood liver cancer. Cancer Cell 14:471-484.
2. Camp ND, James RG, Dawson DW, Yan F, Davison JM, Houck SA, Tang X, Zheng N, Major MB, Moon RT. 2012. Wilms Tumor Gene on X Chromosome (WTX) Inhibits Degradation of NRF2 Protein through Competitive Binding to KEAP1 Protein. J Biol Chem 287:6539-6550.
3. Cancer Genome Atlas Network. 2012. Comprehensive molecular characterization of human colon and rectal cancer. Nature 487:330-337.
4. Cohen MM, Jr. 2005. Beckwith-Wiedemann syndrome: Historical, clinicopathological, and etiopathogenetic perspectives. Pediatr Dev Pathol 8:287-304.
5. Comai G, Boutet A, Neirijnck Y, Schedl A. 2010. Expression Patterns of the Wtx/Amer Gene Family During Mouse Embryonic Development. Developmental Dynamics 239:1867-1878.
6. Dias-Santagata D, Akhavanfard S, David SS, Vernovsky K, Kuhlmann G, Boisvert SL, Stubbs H, McDermott U, Settleman J, Kwak EL, Clark JW, Isakoff SJ, Sequist LV, Engelman JA, Lynch TJ, Haber DA, Louis DN, Ellisen LW, Borger DR, Iafrate AJ. 2010. Rapid targeted mutational analysis of human tumours: A clinical platform to guide personalized cancer medicine. EMBO Mol Med 2:146-158.
7. Ferrari A, Dileo P, Casanova M, Bertulli R, Meazza C, Gandola L, Navarria P, Collini P, Gronchi A, Olmi P, Fossati-Bellani F, Casali PG. 2003. Rhabdomyosarcoma in adults. A retrospective analysis of 171 patients treated at a single institution. Cancer 98:571-580.
8. Fukuzawa R, Anaka MR, Weeks RJ, Morison IM, Reeve AE. 2009. Canonical WNT signalling determines lineage specificity in Wilms tumour. Oncogene 28:1063-1075.
9. Fukuzawa R, Holman SK, Chow CW, Savarirayan R, Reeve AE, Robertson SP. 2010. WTX mutations can occur both early and late in the pathogenesis of Wilms tumour. J Med Genet 47:791-794.
10. Grisaru S, Cano-Gauci D, Tee J, Filmus J, Rosenblum ND. 2001. Glypican-3 modulates BMP- and FGF-mediated effects during renal branching morphogenesis. Dev Biol 231:31-46.
11. Grohmann A, Tanneberger K, Alzner A, Schneikert J, Behrens J. 2007. AMER1 regulates the distribution of the tumor suppressor APC between microtubules and the plasma membrane. Journal of Cell Science 120:3738-3747.
12. Hettmer S, Wagers AJ. 2010. Muscling in: Uncovering the origins of rhabdomyosarcoma. Nat Med 16:171-173.
13. Holman SK, Daniel P, Jenkins ZA, Herron RL, Morgan T, Savarirayan R, Chow CW, Bohring A, Mosel A, Lacombe D, Steiner B, Schmitt-Mechelke T, Schroter B, Raas-Rothschild A, Minaur SG, Porteous M, Parker M, Quarrell O, Tapon D, Cormier-Daire V, Mansour S, Nash R, Bindoff LA, Fiskerstrand T, Robertson SP. 2011. The male phenotype in osteopathia striata congenita with cranial sclerosis. Am J Med Genet A 155A:2397-2408.
14. Huh WW, Skapek SX. 2010. Childhood rhabdomyosarcoma: New insight on biology and treatment. Curr Oncol Rep 12:402-410.
15. Jenkins ZA, van Kogelenberg M, Morgan T, Jeffs A, Fukuzawa R, Pearl E, Thaller C, Hing AV, Porteous ME, Garcia-Minaur S, Bohring A, Lacombe D, Stewart F, Fiskerstrand T, Bindoff L, Berland S, Ades LC, Tchan M, David A, Wilson LC, Hennekam RCM, Donnai D, Mansour S, Cormier-Daire V, Robertson SP. 2009. Germline mutations in WTX cause a sclerosing skeletal dysplasia but do not predispose to tumorigenesis. Nature Genetics 41:95-100.
16. Kim WJ, Rivera MN, Coffman EJ, Haber DA. 2012. The WTX Tumor Suppressor Enhances p53 Acetylation by CBP/p300. Mol Cell 45:587-597.
17. Lopez-Terrada D, Zimmermann A. 2012. Current issues and controversies in the classification of pediatric hepatocellular tumors. Pediatr Blood Cancer 59:780-784.
18. Major MB, Camp ND, Berndt JD, Yi XH, Goldenberg SJ, Hubbert C, Biechele TL, Gingras AC, Zheng N, MacCoss MJ, Angers S, Moon RT. 2007. Wilms tumor suppressor WTX negatively regulates WNT/beta-catenin signaling. Science 316:1043-1046.
19. Maris JM, Denny CT. 2002. Focus on embryonal malignancies. Cancer Cell 2:447-450.
20. Moisan A, Rivera MN, Lotinun S, Akhavanfard S, Coffman EJ, Cook EB, Stoykova S, Mukherjee S, Schoonmaker JA, Burger A, Kim WJ, Kronenberg HM, Baron R, Haber DA, Bardeesy N. 2011. The WTX tumor suppressor regulates mesenchymal progenitor cell fate specification. Dev Cell 20:583-596.
21. Ohlsson R, Nystrom A, Pfeifer-Ohlsson S, Tohonen V, Hedborg F, Schofield P, Flam F, Ekstrom TJ. 1993. IGF2 is parentally imprinted during human embryogenesis and in the Beckwith-Wiedemann syndrome. Nat Genet 4:94-97.
22. Owen C, Virappane P, Alikian M, Stasevich I, Summers K, Lillington D, Bonnet D, Burnett A, Mills K, Lister TA, Fitzgibbon J. 2008. WTX is rarely mutated in acute myeloid leukemia. Haematologica 93:947-948.
23. Parham DM. 2010. Modern Diagnosis of Small Cell Malignancies of Children. Surgical Pathology Clinics 3:515-551.
24. Perdu B, de Freitas F, Frints SG, Schouten M, Schrander-Stumpel C, Barbosa M, Pinto-Basto J, Reis-Lima M, de Vernejoul MC, Becker K, Freckmann ML, Keymolen K, Haan E, Savarirayan R, Koenig R, Zabel B, Vanhoenacker FM, Van Hul W. 2010. Osteopathia striata with cranial sclerosis owing to WTX gene defect. J Bone Miner Res 25:82-90.
25. Pilia G, Hughes-Benzie RM, MacKenzie A, Baybayan P, Chen EY, Huber R, Neri G, Cao A, Forabosco A, Schlessinger D. 1996. Mutations in GPC3, a glypican gene, cause the Simpson-Golabi-Behmel overgrowth syndrome. Nat Genet 12:241-247.
26. Rivera MN, Kim WJ, Wells J, Driscoll DR, Brannigan BW, Han M, Kim JC, Feinberg AP, Gerald WL, Vargas SO, Chin L, Iafrate AJ, Bell DW, Haber DA. 2007. An X chromosome gene, WTX, is commonly inactivated in Wilms tumor. Science 315:642-645.
27. Rivera MN, Kim WJ, Wells J, Stone A, Burger A, Coffman EJ, Zhang J, Haber DA. 2009. The tumor suppressor WTX shuttles to the nucleus and modulates WT1 activity. Proc Natl Acad Sci USA 106:8338-8343.
28. Ruteshouser EC, Robinson SM, Huff V. 2008. Wilms tumor genetics: Mutations in WT1, WTX, and CTNNB1 account for only about one-third of tumors. Genes Chromosomes Cancer 47:461-470.
29. Schnater JM, Kohler SE, Lamers WH, von Schweinitz D, Aronson DC. 2003. Where do we stand with hepatoblastoma? A review. Cancer 98:668-678.
30. Scott RH, Murray A, Baskcomb L, Turnbull C, Loveday C, Al-Saadi R, Williams R, Breatnach F, Gerrard M, Hale J, Kohler J, Lapunzina P, Levitt GA, Picton S, Pizer B, Ronghe MD, Traunecker H, Williams D, Kelsey A, Vujanic GM, Sebire NJ, Grundy P, Stiller CA, Pritchard-Jones K, Douglas J, Rahman N. 2012. Stratification of Wilms tumor by genetic and epigenetic analysis. Oncotarget 3:327-335.
31. Snuderl M, Fazlollahi L, Le LP, Nitta M, Zhelyazkova BH, Davidson CJ, Akhavanfard S, Cahill DP, Aldape KD, Betensky RA, Louis DN, Iafrate AJ. 2011. Mosaic amplification of multiple receptor tyrosine kinase genes in glioblastoma. Cancer Cell 20:810-817.
32. Song HH, Shi W, Xiang YY, Filmus J. 2005. The loss of glypican-3 induces alterations in Wnt signaling. J Biol Chem 280:2116-2125.
33. Tomlinson GE, Kappler R. 2012. Genetics and epigenetics of hepatoblastoma. Pediatr Blood Cancer 59:785-792.
34. Toretsky JA, Zitomersky NL, Eskenazi AE, Voigt RW, Strauch ED, Sun CC, Huber R, Meltzer SJ, Schlessinger D. 2001. Glypican-3 expression in Wilms tumor and hepatoblastoma. J Pediatr Hematol Oncol 23:496-499.
35. Vijayakumar S, Liu G, Rus IA, Yao S, Chen Y, Akiri G, Grumolato L, Aaronson SA. 2011. High-frequency canonical Wnt activation in multiple sarcoma subtypes drives proliferation through a TCF/beta-catenin target gene, CDC25A. Cancer Cell 19:601-612.
36. Weksberg R, Shen DR, Fei YL, Song QL, Squire J. 1993. Disruption of insulin-like growth factor 2 imprinting in Beckwith-Wiedemann syndrome. Nat Genet 5:143-150.
37. Yoo NJ, Kim S, Lee SH. 2009. Mutational analysis of WTX gene in Wnt/beta-catenin pathway in gastric, colorectal, and hepatocellular carcinomas. Dig Dis Sci 54:1011-1014.